The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the mandible||90%|
|Abnormality of the palate||90%|
|Delayed eruption of teeth||90%|
|Abnormality of retinal pigmentation||50%|
|Abnormality of dental enamel||7.5%|
|Abnormality of the anterior chamber||7.5%|
|Conductive hearing impairment||7.5%|
|Sensorineural hearing impairment||7.5%|
|Telangiectasia of the skin||7.5%|
|Autosomal recessive inheritance||-|
|Decreased body weight||-|
|Juvenile rheumatoid arthritis||-|
|obsolete Hypertrophic labia minorais_obsolete: true||-|
|Optic disc pallor||-|
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.